New Discovery May Help Prevent Congenital Birth Defects like Cleft Palate

A study recently published in the journal Cell shows a link between environmental and genetic factors that cause congenital defects. Researchers from around the world including Australia, Japan, Canada, and the United States, link “nature” and “nurture” in the formation of birth defects involving the spine, organs, brain, craniofacial regions, and more.

Researchers found that hypoxia, a period of low levels of oxygen in-utero, along with genetic risk factors like having only one copy of a gene increase the chances a child will develop congenital scoliosis. Those involved in the study say this connection isn’t a far stretch for other congenital disorders as well including cleft lip and cleft palate.

Hypoxia during pregnancy can be caused by many factors including smoking, high altitudes, prescription drugs, and poor control of sugar levels in diabetics. Sally Dunwoodie, head of Embryology Laboratory at the Victor Chang Cardiac research Institute in Australia says that “the combination of genetic risk as well as exposure to low oxygen” instead of just the genetic risk alone meant patients were 10 times more likely to develop congenital disorders.

Though this development requires more research to link to craniofacial disorders, it is an important step in the right direction for scientists studying congenital disorders. Not only does it mean we have answers as to why certain children develop these traits, but it also means we can revise protocol for pregnant women to reduce congenital defects in their children.

In children, cleft lip and cleft palate can result in trouble eating and speaking without impediment. Surgeries for this condition begin at a young age and continue until about 18 years old, until the facial bones have fully developed. Being able to prevent even some cases is a beneficial addition to medicine.

Dr. Fernando Burstein is board certified in plastic and reconstructive surgery and also holds a board certification in otolaryngology (head and neck surgery) who works with adult and pediatric patients. He is also the past President of the American Academy of Pediatrics’ plastic surgery section and the Director for the Center for Craniofacial Disorders at Children’s Healthcare of Atlanta.  For more information on Dr. Burstein and his practice, visit our website. You can stay up to date on the latest plastic surgery news by following us on Facebook, Twitter, and Google+.